A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006975



Internal ID19096193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:90347023..90377758hg38UCSC Ensembl
Innerchr4:91268174..91298909hg19UCSC Ensembl
Innerchr4:91487197..91517932hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3830736
hg1930736
hg1830736
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3630954, nssv3633935
Samples
Known GenesCCSER1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006975
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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